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Table 1 Results of karyotype, MLPA (according to ISCN, 2013) and age at diagnosis

From: Cytogenomic delineation and clinical follow-up of 10 Brazilian patients with Pallister-Killian syndrome

Cases

Results

% cells with i12p

Tissue

Age at diagnosis

1

47,XX,+i(12)(p10)/46,XX

82

Skin

3mo 24 d

2

47,XX,+i(12)(p10)/46,XX

50

Skin

10mo

3

47,XX,+i(12)(p10)/46,XX

80

Skin

1y10mo

4

47,XX,+i(12)(p10)

100

Skin

1y5mo

6

47,XX,+i(12)(p10)/46,XX

75

Amniotic fluid

Prenatal

47,XX,+i(12)(p10)

100

Skin

2y 4 mo

MLPA rsa 12p13.3(RBBP2)X4 and rsa 12p13.3(SLC6A12)X4

NA

Buccal smear

2y 4 mo

MLPA rsa 12p13.3(RBBP2)X4 and rsa 12p13.3(SLC6A12)X4

NA

Skin

2y 4 mo

7

47,XY,+i(12)(p10)/46, XY

87

Skin

7 mo

8

47,XY,+i(12)(p10)

100

Skin

3 y

9

47,XY,+i(12)(p10)

100

Amniotic fluid

Prenatal

10

MLPA rsa 12p13.3(RBBP2)X4 and rsa 12p13.3(SLC6A12)X4

NA

Buccal Smear

1 y 10 mo

  1. NA - not applicable.